CDC40

Chr 6q21

cell division cycle 40

Aliases:: PRP17, EHB3, PRPF17, FLJ10564
MANE:: ENST00000307731.2

OMIM: 605585 ↗NCBI: 51362 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CDC40 · O60508

v62025-08-01

Predicted Aligned Error matrix for CDC40 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.8/ 100

Confident

579 residues

Confidence breakdown

Very high(≥ 90)70%
Confident(70–90)17%
Low(50–70)2%
Very low(< 50)11%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.46
pontocerebellar hypoplasia, type 15
0.41
dengue disease
0.37
pontocerebellar hypoplasia
0.26
Non-syndromic pontocerebellar hypoplasia
0.26
respiratory tract infectious disorder
0.25
Oral leukoplakia
0.12
bile duct disorder
0.09
hepatocellular carcinoma
0.07
lung cancer
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Pre-mRNA-processing factor 17

Required for pre-mRNA splicing as component of the activated spliceosome (PubMed:33220177). Plays an important role in embryonic brain development; this function does not require proline isomerization (PubMed:33220177)